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Results: 1 to 20 of 39

Tests names and labsConditionsGenes, analytes, and microbesMethods

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucopolysaccharidosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1714
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucopolysaccharidosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1714
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lysosomal Storage Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
242146
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Leukodystrophy and Leukoencephalopathy Panel

PreventionGenetics, part of Exact Sciences
United States
202212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucopolysaccharidosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1714
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucopolysaccharidosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1714
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucolipidosis Type IV Mutation Analysis

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
11
  • T Targeted variant analysis

Mucolipidosis Type IV via the MCOLN1 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

MUCOLIPIDOSIS TYPE IV

BioReference Health
United States
11
  • T Targeted variant analysis

Common Carrier Screening Panel

HNL Genomics Connective Tissue Gene Tests
United States
1818
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Extended Carrier Screening

HNL Genomics Connective Tissue Gene Tests
United States
4445
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MCOLN1 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

Super Panel Plus

NxGen MDx
United States
116117
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Universal Panel Plus

NxGen MDx
United States
2122
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Super Panel 113

NxGen MDx
United States
113115
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 39

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.